Lysosomal Storage Diseases
Lysosomal storage diseases are a group of uncommon inherited (with rare exception) diseases resulting from defective function within the intracellular lysosome that results in significant clinical morbidity and dysfunctionality as well as premature death. More than thirty different lysosomal storage diseases have been identified and characterized clinically and in many instances pathophysiologically as well. Lysosomes are cytoplasmic membrane-bound, intracellular organelles. These intracellular vesicles contain a variety of glycoprotein hydrolytic enzymes that degrade various macromolecules into their subunits, such as amino, nucleic and fatty acids. The enzymes that are contained within the primary lysosomes are synthesized by the endoplasmic reticulum, and these primary lysosomes may fuse with other intracellular organelles to form secondary lysosomes where macromolecule degradation occurs.
Cell therapy is the transplantation of specialized cells or tissues. It is different from gene therapy, which is a process by which a functional gene or DNA fragment is inserted into key cells to mitigate or cure a disease. Gene therapy in utero is more challenging for researchers because of numerous inherent problems, such as; how to introduce the therapeutic gene across the blood-brain barrier or, how to target the therapeutic gene to one specific area of the body or, how to limit the therapy to the fetal target. However, in utero cell transplantation has been successful in both animals and humans. (See, Muench, M. O. and Barcena, A., “Stem Cell Transplantation in the Fetus,” in Cancer Control, 2004, 11(2), 105-118). The inventors herein disclose microchimerism in the fetus can also be achieved using a less invasive method, by intravenously injecting the maternal host with capable cells. This method has the advantage of allowing the earliest possible intervention in addition to avoiding trauma to the fetus.